Gene therapy has helped a six-year-old girl see in the dark again after treatment for a rare inherited eye condition.
Saffie Sandford, from Stevenage, has Leber’s congenital amaurosis, or LCA, a rare genetic condition that prevents cells in the eye from making a protein needed for normal vision.
Without treatment, her family had been told she would have been blind by the age of 30.
After tests at Moorfields Eye Hospital in London, Saffie was treated at Great Ormond Street Hospital and underwent Luxturna therapy, a one-off treatment that delivers a healthy copy of the faulty gene directly into each eye.
Her mother Lisa said the impact had been dramatic.
She said: “Saffie’s diagnosis came as a huge shock to us as we’d never heard of the condition or knew me and her dad Tam were carriers.
“It was such a rollercoaster of a journey, but we were so relieved and grateful when we heard there was a treatment available on the NHS.
“Having the gene treatment has been life-changing, it’s like someone waved a magic wand and restored her sight in the dark.”
Scientists at Great Ormond Street Hospital and University College London said the treatment is not a cure, but research suggests it can improve sight and strengthen visual pathways during a key stage of brain development.
The team followed 15 children aged from 15 months to 12 years who received the gene therapy at Great Ormond Street Hospital between 2020 and 2023.
They found changes in how clearly and accurately children could see were more limited in older children, while younger children showed greater improvement when treated during a critical period of visual development.
The researchers also used pattern visual evoked potentials, a painless test that measures how well signals travel from the retina at the back of the eye to the visual cortex, the part of the brain that processes vision.
Rob Henderson, consultant ophthalmologist at Great Ormond Street Hospital, said: “For the first time, we’ve been able to show objectively that gene therapy can strengthen the visual pathways in babies and young children who are living with this rare eye condition.
“For many of the families we work with, even small improvements in their child’s ability to see the world around them make a profound difference.”
“This research highlights not only the potential of gene therapy to change what’s possible for children with inherited retinal disease, but also the importance of developing age-appropriate outcome measures.”
